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Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination
- Source :
- Journal of Investigative Dermatology. 138:709-711
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene ( FLG ). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses. Full FLG sequencing for rare mutations was performed in special cases. Interestingly, prevalence of FLG mutations was significantly increased compared to a population-based control cohort of 1,377 individuals (17.6% vs. 8.4%, p=0.038). Palmoplantar hyperlinearity was significantly associated with the FLG mutation status. Ichthyosis severity score seemed to be increased in XLI with FLG mutations, but the difference was not significant (p=0.124). To our surprise, percentages of atopic manifestations were highly prevalent in both subgroups, 40% and 33% in XLI without and with filaggrin deficiency, respectively. Of note, reduction of filaggrin staining or keratohyalin could not be explained by FLG mutations in all patients. However, we conclude that FLG mutations represent a significant genetic modifier of XLI. [196 words]
- Subjects :
- Adult
0301 basic medicine
Keratohyalin
medicine.medical_specialty
Ichthyosis, X-Linked
Adolescent
Population
Dermatology
Filaggrin Proteins
medicine.disease_cause
Biochemistry
Young Adult
030207 dermatology & venereal diseases
03 medical and health sciences
0302 clinical medicine
Intermediate Filament Proteins
Prevalence
medicine
Humans
Prospective Studies
Child
education
Molecular Biology
Aged
education.field_of_study
Mutation
X-linked ichthyosis
Ichthyosis
business.industry
Cell Biology
Middle Aged
medicine.disease
Phenotype
030104 developmental biology
Child, Preschool
Immunology
business
Filaggrin
Ichthyosis vulgaris
Subjects
Details
- ISSN :
- 0022202X
- Volume :
- 138
- Database :
- OpenAIRE
- Journal :
- Journal of Investigative Dermatology
- Accession number :
- edsair.doi.dedup.....56f875391301a7fdedcfd678be09ebd2